Moving on with (social) cognition in idiopathic cervical dystonia.

Objective: Cervical dystonia (CD) is a movement disorder characterized by involuntary muscle contractions causing sustained twisting movements and abnormal postures of the neck and head. Assumed affected neuronal regions are the cortico-striatal-thalamo-cortical circuits, which are also involved in cognitive functioning. Indeed, impairments in different cognitive domains have been found in CD patients.

Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients.

Background: Dystonia is a rare movement disorder, in which patients suffer from involuntary twisting movements or abnormal posturing. Next to these motor symptoms, patients have a high prevalence of psychiatric comorbidity, suggesting a role for serotonin in its pathophysiology. This study investigates the percentage of DNA methylation of the gene encoding for the serotonin reuptake transporter (SLC6A4) in dystonia patients and the associations between methylation levels and presence and severity of psychiatric symptoms.

A novel diagnostic approach for patients with adult-onset dystonia.

Adult-onset dystonia can be acquired, inherited or idiopathic. The dystonia is usually focal or segmental and for a limited number of cases causal treatment is available. In recent years, rapid developments in neuroimmunology have led to increased knowledge on autoantibody-related dystonias.

Serotonergic system in vivo with [C]DASB PET scans in GTP-cyclohydrolase deficient dopa-responsive dystonia patients.

GTP-cyclohydrolase deficiency in dopa-responsive dystonia (DRD) patients impairs the biosynthesis of dopamine, but also of serotonin. The high prevalence of non-motor symptoms suggests involvement of the serotonergic pathway. Our study aimed to investigate the serotonergic system in vivo in the brain of`DRD patients and correlate this to (non-)motor symptoms.

Dopaminergic and serotonergic alterations in plasma in three groups of dystonia patients.

Introduction: In dystonia, dopaminergic alterations are considered to be responsible for the motor symptoms. Recent attention for the highly prevalent non-motor symptoms suggest also a role for serotonin in the pathophysiology. In this study we investigated the dopaminergic, serotonergic and noradrenergic metabolism in blood samples of dystonia patients and its relation with (non-)motor manifestations.

Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe.

Improved care for people with dystonia presents a number of challenges. Major gaps in knowledge exist with regard to how to optimize the diagnostic process, how to leverage discoveries in pathophysiology into biomarkers, and how to develop an evidence base for current and novel treatments. These challenges are made greater by the realization of the wide spectrum of symptoms and difficulties faced by people with dystonia, which go well-beyond motor symptoms.

Prevalence of non-motor symptoms and their association with quality of life in cervical dystonia.

Objectives: Non-motor symptoms (NMS) are commonly present along with motor impairment in patients with cervical dystonia (CD) and have a significant impact on health-related quality of life (HRQoL). However, the prevalence of NMS and their association with dystonia are still unclear. The aim of our study was to assess the prevalence of depression, anxiety, fatigue, apathy, pain, sleep problems, and excessive daytime sleepiness (EDS) in CD using different evaluation approaches and to explore their association with HRQoL relative to that of motor symptoms.

The Effect of Escitalopram on Central Serotonergic and Dopaminergic Systems in Patients with Cervical Dystonia, and Its Relationship with Clinical Treatment Effects: A Double-Blind Placebo-Controlled Trial.

The pathophysiology of cervical dystonia (CD) is thought to be related to changes in dopamine and serotonin levels in the brain. We performed a double-blind trial with escitalopram (selective serotonin reuptake inhibitor; SSRI) in patients with CD. Here, we report on changes in dopamine D receptor (D2/3R), dopamine transporter (DAT) and serotonin transporter (SERT) binding potential (BP) after a six-week treatment course with escitalopram or placebo.

Myoclonus-dystonia: Distinctive motor and non-motor phenotype from other dystonia syndromes.

Background: Myoclonus-dystonia (M-D) due to a pathogenic variant of SGCE is an autosomal dominant inherited movement disorder. Apart from motor symptoms, psychiatric disorders are highly prevalent in patients with M-D. Previous studies suggest, but never tested directly, that the type of psychiatric disorder differs between dystonia syndromes, probably related to disease specific pathology.

Similar association between objective and subjective symptoms in functional and organic tremor.

Background: A previous study reported a dramatic mismatch in objectively detected and self-reported tremor duration in patients with functional tremor. As these findings have an important and widespread impact in both clinical care and research, we conducted a validation study with a longer study duration and a larger sample of patients.

Methods: Fourteen patients with functional tremor and 19 with organic tremor completed a 30 day study period.

Relationships between Serotonin Transporter Binding in the Raphe Nuclei, Basal Ganglia, and Hippocampus with Clinical Symptoms in Cervical Dystonia: A [C]DASB Positron Emission Tomography Study.

Purpose: Alterations of the central serotonergic system have been implicated in the pathophysiology of dystonia. In this molecular imaging study, we assessed whether altered presynaptic serotonin transporter (SERT) binding contributes to the pathophysiology of cervical dystonia (CD), concerning both motor and non-motor symptoms (NMS).

Methods: We assessed the non-displaceable binding potential (BP) using the selective SERT tracer [C]DASB and positron emission tomography (PET) in 14 CD patients and 12 age- and gender-matched controls.

Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor.

Objective: Trials for additional or alternative treatments for cervical dystonia (CD) are scarce since the introduction of botulinum neurotoxin (BoNT). We performed the first trial to investigate whether dystonic jerks/tremor in patients with CD respond to the selective serotonin reuptake inhibitor (SSRI) escitalopram.

Methods: In a randomised, double-blind, crossover trial, patients with CD received escitalopram and placebo for 6 weeks.

The Frequency and Self-perceived Impact on Daily Life of Motor and Non-motor Symptoms in Cervical Dystonia.

Background: Evidence suggests that non-motor symptoms (NMS) are the most important predictors of decreased health-related quality of life (HR-QoL) in patients with cervical dystonia (CD). In this study, we evaluate an NMS screening list and examine the influence of motor symptoms and NMS on HR-QoL.

Methods: In 40 patients with CD, the frequency of NMS was evaluated using an extended NMS questionnaire.

Corrigendum: Unmet Needs in the Management of Cervical Dystonia.

[This corrects the article on p. 165 in vol. 7, PMID: 27733842.

Fatigue, Sleep Disturbances, and Their Influence on Quality of Life in Cervical Dystonia Patients.

Background: Nonmotor symptoms (NMS) are highly prevalent in cervical dystonia (CD). In general, fatigue and sleep are important NMS that determine a decreased health-related quality of life (HR-QoL), but their influence in CD is unknown. The authors systematically investigated fatigue, excessive daytime sleepiness (EDS), and sleep quality in patients with CD and controls and assessed the influence of psychiatric comorbidity, pain, and dystonia motor severity.

Unmet Needs in the Management of Cervical Dystonia.

Cervical dystonia (CD) is a movement disorder which affects daily living of many patients. In clinical practice, several unmet treatment needs remain open. This article focuses on the four main aspects of treatment.